Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological deterioration and loss of function. This review details the spinal manifestations of MPS IVA and describes the tools used to diagnose and monitor spinal involvement. The relative utility of radiography, computed tomography (CT) and magnetic resonance imaging (MRI) for the evaluation of cervical spine instability, stenosis, and cord compression is discussed. Surgical interventions, anaesthetic considerations, and the use of neurophysiological monitoring during procedures performed under general anaesthesia are reviewed. Recommendations for regular radiological imaging and neurologic assessments are presented, and the need for a more standardized approach for evaluating and managing spinal involvement in MPS IVA is addressed.     

单侧开门外侧块螺钉固定植骨治疗颈脊髓压迫症

目的 探讨单侧开门外侧块螺钉固定植骨术治疗颈脊髓压迫症的临床疗效.方法 自2004-02～2008-06采用单侧开门外侧块螺钉固定植骨术治疗颈脊髓压迫症26例,男18例,女8例;年龄51～67岁,平均58岁.26例中有22例为多节段脊髓型颈椎病(3个或3个节段以上),其中10例合并发育性椎管狭窄症(6例合并动力性椎管狭窄症,3例合并后纵韧带骨化症,1例为外伤性);4例为颈椎管内肿瘤.随访9个月～2年2个月,平均1年8个月.结果 疗效评定标准参照日本整形外科协会(JOA)评分标准,优8例,良15例,可2例,差1例,优良率为88.5%.无一例出现血管损伤或内固定物断裂并发症,1例脊膜瘤因肿物过大术后出现脊髓再灌注损伤表现,经积极治疗好转,生活可自理.结论 该法适用于需要从后方入路进行减压的颈脊髓压迫症,疗效肯定.其优点是手术相对安全,在彻底减压的同时进行坚强的内固定,尤其适用于伴有节段性不稳的脊髓型颈椎病.     

Clinical Case Report of Expansive Laminoplasty for Cervical Myelopathy Due to Both Disc Herniation and Developmental Cervical Spinal Canal Stenosis in Older Adolescents

Reports on adolescent patients with cervical myelopathy who underwent anterior cervical discectomy and fusion are scarce. However, to our knowledge, no cases of expansive laminoplasty for cervical myelopathy associated with progressive neurological deficit after a series of conservative treatment, caused by both disc herniation and developmental cervical spinal canal stenosis, have been reported.From January 2006 to July 2012, we retrospectively studied 3 patients in late adolescence presenting with cervical myelopathy who underwent expansive unilateral open-door laminoplasty at our hospital. The outcomes after the surgery were evaluated according to the Japanese Orthopedic Association scores.Symptoms presented by these patients were due to both disc herniation and developmental cervical spinal canal stenosis. No major complications occurred after the surgical procedures. The median follow-up time was 66 months (range 36–112 months). The Japanese Orthopedic Association scores after surgery showed a significant increase. Long-term outcomes after surgery were satisfactory according to the evaluation criteria for the Japanese Orthopedic Association scores. However, the ranges of motion of the cervical spine decreased, especially the ranges of motion on flexion after surgery showed a significant decrease.Expansive laminoplasty is helpful for older adolescent patients with cervical myelopathy due to both disc herniation and developmental cervical spinal canal stenosis, presenting with progressive neurological deficit after long conservative treatment.     

Lumbar and cervical stenosis. Frequency of the association,role of the ankylosing hyperostosis

Summary The authors report a study of 47 patients admitted for cervical myelopathy (N=17) or symptomatic lumbar spinal stenosis (N=30). Nine patients had clinical evidence of coexisting cervical myelopathy and lumbar spinal stenosis. Ten out of the 17 patients having cervical myelopathy had lumbar spinal stenosis as evidenced by saggital tomography and/or computerized tomography. Nine out of the 30 patients admitted for symptomatic lumbar spinal stenosis had coexisting cervical canal stenosis as evidenced by sagittal tomography. Thirteen out of these 19 patients with both cervical and lumbar canal stenosis had also ankylosing spinal hyperostosis.     

Bone resorption of the facet joint in rheumatoid arthritis as a predictor of lower cervical myelopathy

The purpose of the present study was to identify the risk factors to predict instability of the subaxial cervical spine and cervical myelopathy based on plain radiographs. The study was performed on 99 patients with mutilating rheumatoid arthritis (RA). From plain lateral radiographs of the cervical spine over time, rheumatoid cervical spine lesions were investigated and evaluation was made on the possibility to develop cervical myelopathy. The incidence of subaxial cervical spine lesions in the patients with mutilating RA was as high as 98%. In particular, resorption of the superior facet suggests high risk to develop cervical myelopathy. The presence of spinous process erosion is also likely to reveal such a possibility. There was no statistically significant difference in the anteroposterior diameter of cervical spinal canal between the cases with cervical myelopathy and those without it. Resorption of the superior facet is the most important factor for the development of cervical myelopathy. In the cases with rheumatoid cervical spine lesions, it is necessary to take special notice of the superior facet.     

Bone resorption of the facet joint in rheumatoid arthritis as a predictor of lower cervical myelopathy

Abstract

The purpose of the present study was to identify the risk factors to predict instability of the subaxial cervical spine and cervical myelopathy based on plain radiographs. The study was performed on 99 patients with mutilating rheumatoid arthritis (RA). From plain lateral radiographs of the cervical spine over time, rheumatoid cervical spine lesions were investigated and evaluation was made on the possibility to develop cervical myelopathy. The incidence of subaxial cervical spine lesions in the patients with mutilating RA was as high as 98%. In particular, resorption of the superior facet suggests high risk to develop cervical myelopathy. The presence of spinous process erosion is also likely to reveal such a possibility. There was no statistically significant difference in the anteroposterior diameter of cervical spinal canal between the cases with cervical myelopathy and those without it. Resorption of the superior facet is the most important factor for the development of cervical myelopathy. In the cases with rheumatoid cervical spine lesions, it is necessary to take special notice of the superior facet.     

老年颈椎管狭窄并发脊髓病的外科治疗

目的：探讨老年颈椎管狭窄并发脊髓病的外科治疗结果及围手术期并存病的处理原则,方法：分析15例病人临床表现,颈椎X线动力性拍片及MRI病理改变,围手术期并存病控制及手术疗效。结果：6例椎板成形和8例推板减压者均获得优良疗效,并存病控制得当,无并发症发生,结论：老年颈椎管狭窄并发脊髓病是退变,骨质疏松和颈椎不稳等多因素所致,年龄不是禁忌手术治疗的金标准,控制好围手术期并存病,颈椎后路手术疗效是令人满意的,由于老年骨质疏松,椎板成形易失败。     

Magnetic resonance imaging for the study of cervical myelopathy in rheumatoid arthritis

Cervical myelopathy is found fairly often with rheumatoid arthritis. It is one of the worst complications of the disease and can lead to tetraplegia or even to sudden death. However, when we consider the high incidence of involvement of the cervical spine in rheumatoid arthritis, the number of cases of cervical myelopathy, even of slight degree, is not very high. We have used magnetic resonance to identify the condition of the cervical structures, especially the nerve structures, in 15 patients with rheumatoid arthritis, with involvement of the cervical articulations but without neurological symptoms. We found anterior compression of the spinal cord caused by the odontoid process of the epistropheus in 13 cases. One case had lateral deviation of the spinal cord and another had compression of a vertebral artery. In another the lumen of the nasopharynx was decreased and one had posterior compression of the spinal cord by the posterior arch of the atlas. Magnetic resonance also makes it possible to detect a rheumatoid pannus on the affected articulations. We conclude that magnetic resonance is at present a useful instrument for evaluation of the presence of cervical myelopathy in rheumatoid arthritis patients, to prevent more serious complications.     

Magnetic resonance imaging in the evaluation of patients with rheumatoid arthritis and subluxations of the cervical spine

We used magnetic resonance imaging (MRI) to examine 21 patients with rheumatoid arthritis and vertebral subluxations of the cervical spine, in whom neurologic symptoms and signs indicated spinal cord compression. Based on neurologic signs, the patients were assigned to 1 of 3 classes: class I, no objective signs of cervical myelopathy (9 patients); class II, only 1 objective sign of cervical myelopathy (4 patients); or class III, 2 or more objective signs of cervical myelopathy (8 patients). Atlantoaxial subluxation (20 patients) and subluxations below C2 (6 patients) were detected equally well by MRI and radiography. MRI revealed physical distortion of the spinal cord in all class III patients with compressive myelopathy. This distortion was found less frequently in class II and class I patients (3 patients), and the difference was statistically significant (P less than 0.005, class III versus class I and class II). No correlation was found between the vertebral dislocation (measured in millimeters) on plain radiographs and the presence of cord distortion on MRI. Myelography in class III patients showed that passage of contrast medium was blocked at the same level as the cord distortion seen on MRI. These findings suggest that MRI can serve as a useful, noninvasive procedure in the diagnosis and management of rheumatoid arthritis patients in whom compressive cervical myelopathy is suspected.     

Cervical spine involvement early in the course of rheumatoid arthritis

ObjectivesCervical spine involvement in rheumatoid arthritis (RA) is considered a feature of long-standing disease. We describe two patients who presented with cervical symptoms as early features of RA.MethodsWe report two RA cases with cervical spine involvement as early features and use MEDLINE to review the literature concerning the frequency and disease duration of this manifestation and its imaging with plain radiography, computed tomography (CT), and magnetic resonance imaging (MRI).ResultsAn 80-year-old man with cervical myelopathy from a C1–C2 rheumatoid pannus underwent decompression surgery before development of peripheral synovitis from RA. A 63-year-old woman presented with neck pain and polyarthritis at RA diagnosis, with imaging that confirmed a C1–C2 rheumatoid pannus. Onset of cervical spine involvement in RA is generally after 10 years of disease duration, ranging from 3 months to 45 years after peripheral synovitis among patients with seropositive erosive RA. Occurring in 9–88% of RA patients, cervical spine involvement may result in cervical instability due to either mechanical compression or vascular impairment of the spinal cord. Bone erosions and atlanto-axial subluxation on standard radiographs are two major signs of cervical spine involvement in RA. MRI identifies earlier signs of RA and has a higher sensitivity in detecting bone erosions compared to conventional radiography.ConclusionsCervical spine involvement in RA is not an uncommon condition but is rare at early disease onset. Symptoms of cervical pain and myelopathy should prompt a thorough neurological examination accompanied by imaging.     

Spinale epidurale Lipomatose als seltene Nebenwirkung bei steroidabhängigem Jo-1-Antikörper-Syndrom

Spinal epidural lipomatosis (SEL) of the thoracic and lumbar spine is a rare entity, which leads to compression of the spinal canal. The exact pathogenesis is still unknown. It most commonly occurs in patients with long-term exogenous or endogenous glucocorticoid excess or morbid obesity but there are also idiopathic forms. The symptoms depend on the severity of the SEL and can manifest as clinically asymptomatic, non-specific back pain, radiculopathy up to spinal cord compression. The diagnosis is usually achieved by magnetic resonance imaging (MRI) of the affected spinal segments. The treatment varies between discontinuation of glucocorticoids, weight reduction up to multisegmental decompressive laminectomy. The following case report presents the findings of SEL in a patient with steroid-dependent Jo-1 antibody syndrome and provides a current literature review on this rare disease.     

Cervical spine involvement early in the course of rheumatoid arthritis

Objectives

Cervical spine involvement in rheumatoid arthritis (RA) is considered a feature of long-standing disease. We describe two patients who presented with cervical symptoms as early features of RA.

Methods

We report two RA cases with cervical spine involvement as early features and use MEDLINE to review the literature concerning the frequency and disease duration of this manifestation and its imaging with plain radiography, computed tomography (CT), and magnetic resonance imaging (MRI).

Results

An 80-year-old man with cervical myelopathy from a C1–C2 rheumatoid pannus underwent decompression surgery before development of peripheral synovitis from RA. A 63-year-old woman presented with neck pain and polyarthritis at RA diagnosis, with imaging that confirmed a C1–C2 rheumatoid pannus. Onset of cervical spine involvement in RA is generally after 10 years of disease duration, ranging from 3 months to 45 years after peripheral synovitis among patients with seropositive erosive RA. Occurring in 9–88% of RA patients, cervical spine involvement may result in cervical instability due to either mechanical compression or vascular impairment of the spinal cord. Bone erosions and atlanto-axial subluxation on standard radiographs are two major signs of cervical spine involvement in RA. MRI identifies earlier signs of RA and has a higher sensitivity in detecting bone erosions compared to conventional radiography.

Conclusions

Cervical spine involvement in RA is not an uncommon condition but is rare at early disease onset. Symptoms of cervical pain and myelopathy should prompt a thorough neurological examination accompanied by imaging.     

Cervical myelopathy caused by periodontoid synovial pannus in a patient with psoriatic arthritis: a case report

The atlantoaxial subluxation and the formation of a synovial periodontoid pannus are associated with rheumatoid arthritis causing mechanical compression of the spinal cord and cervical myelopathy. Atlantoaxial subluxation is very rare in psoriatic arthritis (PsA). Even more rare is the formation of a periodontoid synovial pannus associated with PsA and signs of myelopathy. In this report, cervical myelopathy caused by periodontoid synovial pannus in PsA is described.     

Neck pain in the elderly: a management review. Part II

Rheumatoid arthritis and metastatic cancer occur commonly in the elderly, and may cause neck pain. Rheumatoid arthritis may produce cervical radiculopathy and myelopathy resulting from vertebral body subluxation, although radiological manifestations of subluxation are much more common than neurological dysfunction. Cervical spinal cord compression is a neurological emergency and may produce cervical radiculopathy as well as myelopathy. Careful neurological and radiological assessments are required to minimize pain and preserve neurological function in elderly patients suffering from neck pain complicating rheumatoid arthritis or cervical spinal metastasis.     

Coincidence of spinal canal stenosis and thoracoabdominal aortic aneurysm

We report a case in which a thoracoabdominal aneurysm was present in association with previously unknown critical spinal canal stenosis. In spite of using left heart bypass, systemic hypothermia, and controlled cerebrospinal fluid drainage for spinal cord protection, the patient developed paraplegia following aortic aneurysm repair. Computed tomography scan revealed critical stenosis of the spinal canal that was thought to be sufficient to produce spinal cord compression syndromes including paraplegia.     

A case report of rheumatoid arthritis patient with thoracic myelopathy]

The authors report a 39-year-old woman with rheumatoid arthritis associated with myelopathy at the thoracic level. X-ray films of thoracic spine showed scoliosis which had its apex at T6. Myelography demonstrated incomplete block at the level of T6. Computerized tomogram revealed destruction of left pedicle of the sixth thoracic vertebra and dislocation of the sixth rib into the spinal canal which compressed cord at T6 level. Hemi-laminectomy at T5-T7 level and decompression were performed. Pathological investigations of soft tissue around the cord and dura mater showed infiltration of small round cells. We concluded that the synovitis of costo-transverse joint or costovertebral joint led to the destruction of the pedicle. As a result, dislocation of the rib, scoliotic deformity and thoracic myelopathy occurred.     

Low-field MRI in the evaluation of rheumatoid cervical spine. Comparison with neurological findings and routine plain radiography

The usefulness of a low-field magnetic resonance imaging (MRI) instrument in the evaluation of cervical spine abnormalities was studied in 20 patients with rheumatoid arthritis and known anterior atlantoaxial subluxation (AAS) (16 patients) or other cervical spine abnormalities (4 patients). The MRI results were compared with routine plain radiographs and with neurological findings. Three patients had a clinical suspicion of cervical spinal cord compression. This was confirmed by MRI, which additionally detected one more patient with compressive myelopathy. Anterior AAS in MR images was seen in 4 patients, but proper flexion images were not obtained. Atlantoaxial impaction was detected by a recent method of Sakaguchi-Kauppi in 16 patients as compared to 9 patients by the McGregor method and 4 patients by MRI. Most of the clinically important consequences of rheumatoid cervical spine are seen with a low-field MR imager, but detailed bony changes and precise measurements are better evaluated with plain X-rays.     

Bony ankylosis of the facet joint of the cervical spine in rheumatoid arthritis: Its characteristics and relationship to the clinical findings

Objectives: The purpose of this study was to clarify the characteristics of bony ankylosis of the facet joint of the cervical spine in rheumatoid arthritis (RA) patients who required cervical spine surgery, and its relationship to the clinical findings.

Methods: Eighty consecutive RA patients with cervical spine disorder who received initial surgery were reviewed. The occurrence of bony ankylosis of the facet joint of the cervical spine was investigated using computed tomography (CT) before surgery. We also evaluated the severity of neurological symptoms and the plain wrist radiographs taken before surgery; furthermore, we evaluated each patient’s medical history for total knee arthroplasty (TKA) or hip arthroplasty (THA).

Results: The preoperative CT imaging demonstrated bony ankylosis of the facet joint of the cervical spine in 45 facet levels of 19 cases (BA?+?group). In all patients, responsible instability or stenosis was demonstrated just caudal or on the cranial side of those bony ankylosis. Before surgery, the BA?+?group included significantly more patients showing severe cervical myelopathy (p?p?p Conclusions: Bony ankylosis of the facet joint of the cervical spine may be a risk factor of instability or stenosis at the adjacent disc level and severe cervical myelopathy. Furthermore, its ankylosis was demonstrated in RA patients with severe destroyed joints.     

多层螺旋CT及三维成像对老年颈椎椎管狭窄的诊断价值

目的探讨三维CT对老年颈椎椎管狭窄的诊断价值。方法对32例行颈部或颈椎检查的病人进行多层螺旋CT横断扫描，扫描后对图像行薄层重建，并传至工作站，应用轴位、多平面成像（MPR）、表面遮盖成像（SSD）、容积成像（VR）及仿真内镜（VE）等方法对有颈椎椎管狭窄的病例图像进行分析。结果32例患者中，18例患者颈椎椎管大小和形态正常，14例病人颈椎椎管均不同程度狭窄，通过不同形式的成像方式可以观察到病变，其中包括骨质增生和椎间盘脱出两种情况，在14例椎管狭窄的病人中，观察到骨质增生38处，颈间盘脱出8处；对于骨质增生的情况，在轴位像上观察到30处，冠状位像上观察到3处，矢状位像上观察到38处，三维图像上观察到21处，仿真内镜像上观察到15处，颈间盘脱出的表现仅能在轴位像上显示。结论多层螺旋CT及三维成像能提供老年性椎管狭窄的精细情况，对颈椎椎管狭窄能立体、直观、全面地展示其原因及程度，为临床治疗提供更充分的信息。